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Huntington disease

Case contributed by Frank Gaillard
Diagnosis certain

Presentation

History withheld.

Patient Data

Age: 30 years
mri

There is substantial volume loss in the basal ganglia, particularly the lentiform nuclei and caudate nuclei. This is confirmed on frontal horn width to intercaudate ratio (FH:CC = 1.9, normal range 2.2-2.6) and intercaudate distance to inner table ratio (CC:IT = 0.17, normal range 0.09-0.12). Otherwise, the brain volume is preserved. No inter or extra-axial mass or focal abnormality.

Case Discussion

This patient is presenting pre-symptomatically with a family history of Huntington disease. He has been tested and confirmed to be HD gene positive.

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